Charles B. Brill

The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern

The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate (EEC syndrome) is described in a mother and 3 of her 4 children. Autosomal dominant inheritance was suggested in this family. However, genetic heterogeneity may exist in this syndrome. The significance of associated finClings, incluCling carcinoma of the cervix uteri, lacrimal duct stenosis and urinary tract strictures in patients with ectodermal dysplasia is considered.

Spastic quadriparesis due to C1–C2 subluxation in hurler syndrome

6. Ando T, and Nyhan WL: Propionic acidemia and the ketotic hyperglycinemia syndrome, in Nyhan WL, editor: Heritable DiSorders of amino acid metabolism, New York, 1974, John Wiley & Sons, inc. 7. Scriver CR, and Rosenberg LE: Amino acid metabolism and its disorders, Philadelphia, 1973, WB Saunders Company. 8. Bray PF, Herbst W, Johnson DG, Book LS, Ziter FA, and Condon VR: Childhood gastro-esophageal reflux mimicking neuropsychiatric disease, Arch Neurol 33A:388, 1976.

Giant Intracranial Aneurysm in a Child with Tuberous Sclerosis: CT Demonstration

The authors describe the first case of giant intracranial aneurysm in a child with tuberous sclerosis. The subject of vascular disease in this condition is reviewed.

CT of cerebral venous sinus thrombosis in a child with homocystinuria

We describe a case of cerebral venous sinus thrombosis in a child with homocystinuria. We present both the classic CT findings of cerebral sinus thrombosis, and also the first report of the CT visualization of transdural venous collateral circulation.

Neuroblastoma Presenting with Myoclonic Encephalopathy

A curious association between myoclonic encephalopathy and neuroblastoma in children has recently been reported with increasing frequency. The authors report a case in which knowledge of this association led to early detection of a silent intrathoracic neuroblastoma. An occult malignant neural crest tumor should be suspected in any child presenting with myoclonic encephalopathy.

Supernumerary small ring chromosome.

A supernumerary small ring chromosome was found in 30% of cultured peripheral leucocytes and 50% of skin fibroblasts in a 6-year-old boy with mild mental retardation and midline cleft palate. The extra chromosome appeared to carry a densely staining region on Giemsa banding. The banding patterns of the remaining 46 chromosomes were normal. C banding indicated that the ring chromosome contained mainly centromeric constitutive heterochromatin. Chromosome analysis of both parents showed normal karyotypes by both conventional and banding techniques; thus the origin of the ring chromosome could not be determined.

Occipital Interhemispheric Acute Subdural Hematoma Treated by Lambdoid Suture Tap

We present the case of a 6-week-old infant with acute subdural hematoma secondary to hemorrhagic disease of the newborn. Computed tomographic scan localization of the collection in the posterior portion of the supratentorial compartment allowed for its removal by lambdoid suture taps. The procedure is described.

Subependymal giant cell astrocytoma diagnosed by CT-guided stereotactic brain biopsy.

tumor demonstrating contrast enhancement was present in the right basal ganglia and foramen of Monro, associated with mild ventricular dilatation (Figure 1A). Peritumoral edema was present, and no mass effect was noted. A diagnosis of tuberous sclerosis was made. Both parents were neurologically normal. The child’s seizures continued despite anticonvulsant medications, and his clinical course and CT scans remained unchanged until 8 years of age when his seizure frequency increased. Repeat CT scan showed an increase in the size of